Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1) Latest Advances

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Journal: Medicina (Kaunas, Lithuania)

Published: October 22, 2024

Seckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report.

Journal: International journal of clinical pediatric dentistry

Published: August 26, 2024

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

Journal: EBioMedicine

Published: July 09, 2024

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).

Journal: Metabolic brain disease

Published: June 15, 2024

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Journal: American journal of medical genetics. Part A

Published: March 02, 2024

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

Journal: Clinical genetics

Published: February 26, 2024

Arterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy.

Journal: Clinical case reports

Published: February 16, 2024

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Journal: Hormone research in paediatrics

Published: February 13, 2024

A novel variant in NSUN2 causes intellectual disability in a Chinese family.

Journal: BMC medical genomics

Published: September 23, 2023

In silico protein interaction screening uncovers DONSON's role in replication initiation.

Journal: Science (New York, N.Y.)

Published: August 17, 2023

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

Journal: European journal of medical genetics

Published: July 02, 2023

Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: June 27, 2023

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Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Clinical Challenges in Diagnosing Primordial Dwarfism: Insights from a MOPD II Case Study.

Seckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report.

Seckel Dwarfism-A Rare Autosomal Recessive Inherited Syndrome: A Case Report.

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).

Novel mutation in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II).

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

Further defining the molecular spectrum and long-term follow-up of 17 patients with Dyggve-Melchior-Clausen and Smith-McCort dysplasia type 2.

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.

Arterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy.

Arterial stroke in a child with Seckel syndrome with a pattern of non-moyamoya vasculopathy.

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

Genetic Findings in Short Turkish Children Born to Consanguineous Parents.

A novel variant in NSUN2 causes intellectual disability in a Chinese family.

A novel variant in NSUN2 causes intellectual disability in a Chinese family.

In silico protein interaction screening uncovers DONSON's role in replication initiation.

In silico protein interaction screening uncovers DONSON's role in replication initiation.

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

PHGDH-related microcephalic dwarfism in two fetuses: Expanding the phenotypical spectrum of L-serine biosynthesis defect.

Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene

Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene